WU-L027-T1-X1P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GALT-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCC11p.G966A
Missense
SNP
0.366
2--
ABCC8-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABHD12B-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006372.2-
-
-
-
NDNDAC006372.3--AC006372.2
AC006372.3-
-
-
-
NDNDAC006372.3--AC006372.2
AC006538.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092329.3-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC134980.3-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
1Loss-
AC138696.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC253536.7-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACKR2p.G244C
Missense
SNP
0.459
2--
ACO1-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOX3p.R81*
Nonsense
SNP
0.510
2--
ACP2-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACR-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTC1-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTN1-
-
-
-
1Loss-
ACTN2-
-
-
-
3Gain-
ACTR10-
-
-
-
1Loss-
ACVR1p.E287*
Nonsense
SNP
0.451
2--
ACVR1Cp.L416F
Missense
SNP
0.417
2--
ACYP1-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM33p.E82*
Nonsense
SNP
0.514
2--
ADAMTS10-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADAT3-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK5-
-
-
-
1Loss-
ADCY10-
-
-
-
3Gain-
ADCY4-
-
-
-
1Loss-
ADCYAP1R1p.V89F
Missense
SNP
0.477
2--
ADGRB1-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRF4p.V441L
Missense
SNP
0.487
2--
ADGRL1-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGO2-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHNAK2-
-
-
-
1Loss-
AHSA1-
-
-
-
1Loss-
AIDA-
-
-
-
3Gain-
AIFM3p.P253H
Missense
SNP
0.992
1Loss-
AIM2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDCD24--AL139099.4
AL139099.4--RN7SK
RN7SK--AL139099.4
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH4A1p.R113Q
Missense
SNP
0.493
2--
ALDH6A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALG12-
-
-
-
1Loss-
ALKBH1-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMZ1p.R90H
Missense
SNP
0.463
2--
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3p.W1330L
p.K1698N
Missense
Missense
SNP
SNP
0.484
0.506
2--
ANKLE1-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD30BLp.R17L
Missense
SNP
0.341
2--
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD54-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AP000350.4-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEX1-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARC-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGAP2-
-
-
-
1Loss-
ARFGAP3-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARG2-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP39-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGAP6p.S792R
Missense
SNP
0.500
NDND-
ARHGAP8-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF39-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARL14EP-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ASAP1p.R392I
Missense
SNP
0.476
2--
ASB2-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCC3p.H1005N
Missense
SNP
0.641
2--
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC4p.P122H
Missense
SNP
0.455
2--
ASNA1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASTN1-
-
-
-
3Gain-
ASXL1p.D326N
Missense
SNP
0.422
2--
ASXL3-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF6-
-
-
-
3Gain-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATL1-
-
-
-
1Loss-
ATMp.D2708N
Missense
SNP
0.447
2--
ATP10A-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP4Ap.A104E
Missense
SNP
0.523
2--
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GNT3-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GALT6-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
1Loss-
BAIAP3p.Q158K
Missense
SNP
0.502
2--
BATF-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAZ1A-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCR-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BLMp.Q184L
Missense
SNP
0.571
2--
BLOC1S6-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMP6p.M136I
Missense
SNP
0.541
2--
BNC2-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BPNT1-
-
-
-
3Gain-
BRD1-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BROX-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C21orf58-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23p.L161P
Missense
SNP
1.000
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C3-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C8orf33-
-
-
-
1Loss-
C8orf82-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN1-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CAT-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC166-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185p.Q619H
Missense
SNP
0.299
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL25p.R50L
Missense
SNP
1.000
1Loss-
CCL27-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNT1p.H518Y
p.H517N
Missense
Missense
SNP
SNP
0.463
0.479
2--
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1Ep.G113V
Missense
SNP
0.350
3Gain-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
2-CD24--RN7SL1
CD24--AL139099.4
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD274-
-
-
-
1Loss-
CD320-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD44-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD59-
-
-
-
1Loss-
CD5L-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CDAN1-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDCA4-
-
-
-
1Loss-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDKL1-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CEBPE-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPIp.G154C
Missense
SNP
0.473
NDND-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERK-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS4-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFAP47p.N939K
Missense
SNP
0.463
NDND-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFL2-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGRRF1-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHATp.G437C
Missense
SNP
0.440
2--
CHCHD10-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD8-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHML-
-
-
-
3Gain-
CHMP4A-
-
-
-
1Loss-
CHMP5-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHRAC1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB4p.D182H
Missense
SNP
0.477
2--
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST12p.V181M
Missense
SNP
0.516
2--
CHST14p.E61Q
Missense
SNP
1.000
1Loss-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB3-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLBA1-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLMN-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLTA-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA1p.S230L
Missense
SNP
0.344
2--
CNGA4-
-
-
-
1Loss-
CNIH1-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COCH-
-
-
-
1Loss-
COG2-
-
-
-
3Gain-
COL22A1-
-
-
-
1Loss-
COL24A1p.G879C
Missense
SNP
0.411
2--
COL4A5p.P873S
Missense
SNP
0.444
NDND-
COL5A3-
-
-
-
1Loss-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL6A3p.R1597G
Missense
SNP
0.560
2--
COLGALT1-
-
-
-
1Loss-
COMMD5-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPS2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX8C-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPNE4p.S313Y
Missense
SNP
0.412
2--
CPNE6-
-
-
-
1Loss-
CPSF1-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
1Loss-
CREB3L1-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRELD2-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC1-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRY2-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSMD3p.C834Y
Missense
SNP
0.500
2--
CSNK1E-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CST8p.P2T
Missense
SNP
0.382
2--
CSTF3-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTR9p.P1002L
Missense
SNP
1.000
1Loss-
CTSD-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTXN1-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYC1-
-
-
-
1Loss-
CYFIP1-
-
-
-
1Loss-
CYHR1-
-
-
-
1Loss-
CYP11B1p.S200R
Missense
SNP
1.000
1Loss-
CYP11B2-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP46A1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DAB1p.S77Y
Missense
SNP
0.507
2--
DACH2p.Q339H
Missense
SNP
0.484
NDND-
DACT1-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF12L1p.E236D
p.L174M
Missense
Missense
SNP
SNP
0.452
0.479
NDND-
DCAF15-
-
-
-
1Loss-
DCAF4-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCC-
-
-
-
1Loss-
DCDC1-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCTN3-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEFB103A-
-
-
-
3Gain-
DEFB103B-
-
-
-
3Gain-
DEFB104A-
-
-
-
3Gain-
DEFB104B-
-
-
-
3Gain-
DEFB105A-
-
-
-
3Gain-
DEFB105B-
-
-
-
3Gain-
DEFB106A-
-
-
-
3Gain-
DEFB106B-
-
-
-
3Gain-
DEFB107A-
-
-
-
3Gain-
DEFB107B-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND3-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND5Bp.E801K
Missense
SNP
0.488
2--
DENND6B-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DGAT1-
-
-
-
1Loss-
DGKIp.E794*
Nonsense
SNP
0.381
2--
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2A-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAH14-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH3p.P2191T
Missense
SNP
0.497
2--
DNAH7p.H98Q
Missense
SNP
0.477
2--
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJB7-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMT1-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPF3p.P142Q
Missense
SNP
1.000
1Loss-
DPH1-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPYSL3p.S261R
Missense
SNP
0.485
2--
DRC3-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2p.G332A
Missense
SNP
1.000
1Loss-
DSG3-
-
-
-
1Loss-
DSG4p.T1002S
Missense
SNP
1.000
1Loss-
DSPp.D2117H
Missense
SNP
0.512
2--
DTD2-
-
-
-
1Loss-
DTL-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP18-
-
-
-
1Loss-
DUSP22p.G2V
Missense
SNP
0.217
2--
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
E2F8-
-
-
-
1Loss-
EAPP-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECSIT-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EEF1D-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EFCAB11-
-
-
-
1Loss-
EFCAB2-
-
-
-
3Gain-
EFCAB6-
-
-
-
1Loss-
EFHBp.R361*
Nonsense
SNP
0.596
2--
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGLN1-
-
-
-
3Gain-
EGLN3-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2D-
-
-
-
3Gain-
EIF2S1-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELFN2-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EML1-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENHO-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENPP1p.R31W
Missense
SNP
0.458
2--
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA3p.T84K
p.W815C
Missense
Missense
SNP
SNP
0.422
0.519
2--
EPHX1-
-
-
-
3Gain-
EPHX3-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPPK1-
-
-
-
1Loss-
EPRS-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERBB3p.S1104C
Missense
SNP
0.449
2--
ERG28-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ESR2-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVI5L-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX2p.A374E
Missense
SNP
0.403
2--
EWSR1-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC3L4-
-
-
-
1Loss-
EXOC5-
-
-
-
1Loss-
EXOC8-
-
-
-
3Gain-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
1Loss-
EXT2-
-
-
-
1Loss-
EXTL1p.Q370E
Missense
SNP
0.526
2--
F11R-
-
-
-
3Gain-
F2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FAM118A-
-
-
-
1Loss-
FAM129Ap.L119V
Missense
SNP
0.369
2--
FAM129C-
-
-
-
1Loss-
FAM135B-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189B-
-
-
-
3Gain-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM214A-
-
-
-
1Loss-
FAM214B-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71D-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM95C-
-
-
-
1Loss-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FAT3p.S1490Y
Missense
SNP
0.573
2--
FAT4p.V1515L
Missense
SNP
0.456
2--
FBLN1-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL6-
-
-
-
1Loss-
FBXO10-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO3-
-
-
-
1Loss-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCER2-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO1-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDX2-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FERMT2-
-
-
-
1Loss-
FEZF1p.Q472K
Missense
SNP
0.413
2--
FGF11-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP3-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLII-
-
-
-
1Loss-
FLRT2-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FLVCR2-
-
-
-
1Loss-
FMN1-
-
-
-
1Loss-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSBp.V94F
Missense
SNP
0.487
2--
FOXA1-
-
-
-
1Loss-
FOXG1-
-
-
-
1Loss-
FOXH1-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM2p.T1365A
Missense
SNP
0.458
2--
FRG2C-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FSCB-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSHB-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G2E3-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA5-
-
-
-
1Loss-
GABRA6p.E359Q
Missense
SNP
0.345
2--
GABRB3-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT16-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT2p.G272C
Missense
SNP
0.303
3Gain-
GALNT7p.K198T
Missense
SNP
0.552
2--
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCDH-
-
-
-
1Loss-
GCH1-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GEMIN2-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGTLC2-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLI4-
-
-
-
1Loss-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GMFB-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GML-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAZ-
-
-
-
1Loss-
GNB5-
-
-
-
1Loss-
GNE-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNPAT-
-
-
-
3Gain-
GNPNAT1-
-
-
-
1Loss-
GNRHRp.P282T
Missense
SNP
0.500
2--
GOLGA4p.E1985Q
Missense
SNP
0.533
2--
GOLGA5-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLPH3L-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH2L-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPIHBP1-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR137C-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR20-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR33-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPS2-
-
-
-
1Loss-
GPT-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHPR-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRM1p.T363K
Missense
SNP
0.345
2--
GRP-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSDMD-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GUCD1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN4-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1p.S96*
Nonsense
SNP
0.505
2--
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HGH1-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIF3Ap.R244L
Missense
SNP
0.542
2--
HINT2-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HOMER3-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
1Loss-
HOXB3p.Q55L
Missense
SNP
0.510
2--
HPS4-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD11B1L-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSF1-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSPA1Lp.K248N
Missense
SNP
0.480
2--
HSPA2-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTR1Ap.E310K
Missense
SNP
0.435
2--
HYPK-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFI16p.F552L
Missense
SNP
0.316
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI30-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFT27-
-
-
-
1Loss-
IFT43-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF22-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL11RA-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL25-
-
-
-
1Loss-
IL27RA-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL2RGp.C102*
Nonsense
SNP
0.344
NDND-
IL33-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INVSp.G667S
Missense
SNP
0.429
2--
IPO4-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IQANK1-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC3p.T1036R
Missense
SNP
0.480
2--
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
1Loss-
IRF6-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA4p.E121*
Nonsense
SNP
0.580
2--
ITGAE-
-
-
-
1Loss-
ITIH6p.D750N
Missense
SNP
0.421
NDND-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPK1p.E168K
Missense
SNP
1.000
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITSN2p.L1175V
Missense
SNP
0.360
2--
IVD-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KANK1-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNA5p.A345T
Missense
SNP
0.383
2--
KCNAB3-
-
-
-
1Loss-
KCNC1-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNH1-
-
-
-
3Gain-
KCNH5-
-
-
-
1Loss-
KCNH8p.G759V
Missense
SNP
0.588
2--
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK2-
-
-
-
3Gain-
KCNK9-
-
-
-
1Loss-
KCNN1-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNQ3-
-
-
-
1Loss-
KCNV2-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KDELR3-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KELp.R428S
Missense
SNP
0.493
2--
KHDC4-
-
-
-
3Gain-
KHDRBS3-
-
-
-
1Loss-
KHNYN-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0040-
-
-
-
3Gain-
KIAA0391-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1549L-
-
-
-
1Loss-
KIAA1671-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIFC2-
-
-
-
1Loss-
KIRREL1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF13-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL14-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL26-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KMT5Bp.T35M
Missense
SNP
0.357
2--
KMT5Cp.E212*
Nonsense
SNP
0.508
2--
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRT73p.S25L
Missense
SNP
0.510
2--
KRT82p.E485D
Missense
SNP
0.470
2--
KRT83p.E251*
Nonsense
SNP
0.459
2--
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KTN1-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
L1CAMp.A1101S
Missense
SNP
0.500
NDND-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
LAMA1p.S2021R
Missense
SNP
0.464
2--
LAMB3-
-
-
-
3Gain-
LAMTOR2p.D67H
Missense
SNP
0.257
3Gain-
LARGE1-
-
-
-
1Loss-
LARGE2-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT2-
-
-
-
1Loss-
LDB2p.Y78*
Nonsense
SNP
0.449
2--
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIMK2-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN2-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LONP1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LRFN5-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP1Bp.A2455D
p.H564Q
Missense
Missense
SNP
SNP
0.504
0.408
2--
LRP4-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC14-
-
-
-
1Loss-
LRRC16Ap.W1332C
Missense
SNP
0.468
NDND-
LRRC19-
-
-
-
1Loss-
LRRC24-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC6-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LTN1p.L985V
Missense
SNP
0.263
2--
LURAP1L-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LY6D-
-
-
-
1Loss-
LY6E-
-
-
-
1Loss-
LY6H-
-
-
-
1Loss-
LY6K-
-
-
-
1Loss-
LY6L-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYNX1-
-
-
-
1Loss-
LYNX1-SLURP2-
-
-
-
1Loss-
LYPD2-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1p.R346L
Missense
SNP
0.582
2--
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
1Loss-
MAFA-
-
-
-
1Loss-
MAFF-
-
-
-
1Loss-
MAGEL2-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MAN2C1p.G105A
Missense
SNP
0.516
2--
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP1S-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K9-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK15-
-
-
-
1Loss-
MAPK1IP1L-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKBP1-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH2-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK3-
-
-
-
1Loss-
MARVELD3p.P159H
Missense
SNP
0.429
2--
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MAX-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCHR1-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM3AP-
-
-
-
1Loss-
MCM5-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MDGA2-
-
-
-
1Loss-
MDK-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MECP2p.R145P
Missense
SNP
0.409
NDND-
MED11-
-
-
-
1Loss-
MED14p.E674*
Nonsense
SNP
0.466
NDND-
MED16-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEI1-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MELK-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL3-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD3-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGA-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT3p.P62H
Missense
SNP
1.000
1Loss-
MGST3-
-
-
-
3Gain-
MIA2-
-
-
-
1Loss-
MIA3-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MIOX-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MMP11-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MORC1p.R270*
Nonsense
SNP
0.602
2--
MORC2-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
1Loss-
MROH5-
-
-
-
1Loss-
MROH6-
-
-
-
1Loss-
MROH9-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MSR1p.A72G
Missense
SNP
0.604
2--
MSTO1-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTA1-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTFP1-
-
-
-
1Loss-
MTHFD1-
-
-
-
1Loss-
MTMR10-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR3-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC15-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC4p.P3250L
Missense
SNP
0.440
2--
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL2p.P108T
Missense
SNP
0.390
2--
MYLK3p.G77W
Missense
SNP
0.484
2--
MYO15A-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1F-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
1Loss-
MYOM2p.E315*
Nonsense
SNP
0.529
2--
MYORG-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPRT-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEAL2p.E1905*
Nonsense
SNP
0.512
2--
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAN-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCF4-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDRG1-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA6-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB6-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFS2-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK9-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NF2p.E38D
Missense
SNP
1.000
1Loss-
NFAM1-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKB1p.T940I
Missense
SNP
0.468
2--
NFKBIA-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGFp.A54T
Missense
SNP
0.518
2--
NHLH1-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NID2-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
1Loss-
NIT1-
-
-
-
3Gain-
NKX2-1-
-
-
-
1Loss-
NKX2-3p.L97M
Missense
SNP
0.476
2--
NKX2-8-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP5p.D550H
Missense
SNP
0.510
2--
NLRP6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL6-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH3-
-
-
-
1Loss-
NOVA1-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPIPB11p.P415T
Missense
SNP
0.104
2--
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C2AP-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR5A1p.Q271K
Missense
SNP
0.471
2--
NRBP2-
-
-
-
1Loss-
NRDE2-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NRXN1p.P573Q
Missense
SNP
0.474
2--
NRXN3-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUBPL-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT2-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUMB-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP160-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP50-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NXF3p.X529_splice
Splice_Site
SNP
0.364
NDND-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OC90-
-
-
-
1Loss-
OCA2-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPLAH-
-
-
-
1Loss-
OPN3-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR13C9p.A106T
Missense
SNP
0.516
2--
OR13G1-
-
-
-
3Gain-
OR13J1-
-
-
-
1Loss-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1C1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1L8p.P153T
Missense
SNP
0.518
2--
OR1M1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3p.L26I
Missense
SNP
0.257
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2S2-
-
-
-
1Loss-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR2Z1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5p.G201V
Missense
SNP
0.564
2--
OR4B1-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4M2-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N4-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3p.A244P
Missense
SNP
1.000
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6F1-
-
-
-
3Gain-
OR6J1-
-
-
-
1Loss-
OR6K2p.R228G
Missense
SNP
0.326
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6S1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8J1p.G72D
Missense
SNP
0.422
2--
OSBP2-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSM-
-
-
-
1Loss-
OTOG-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PAEPp.H38Q
Missense
SNP
0.503
2--
PAFAH1B1-
-
-
-
1Loss-
PAK6-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
1Loss-
PARP2-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAX9-
-
-
-
1Loss-
PBX1p.E300*
Nonsense
SNP
0.253
3Gain-
PBX4-
-
-
-
1Loss-
PBXIP1-
-
-
-
3Gain-
PCBD2p.M77I
Missense
SNP
0.434
2--
PCBP3-
-
-
-
1Loss-
PCDHA1p.R428P
Missense
SNP
0.502
2--
PCDHB16p.T134N
Missense
SNP
0.478
2--
PCK2-
-
-
-
1Loss-
PCNT-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCNX2-
-
-
-
3Gain-
PCNX4-
-
-
-
1Loss-
PCP2-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDE3Ap.E959D
Missense
SNP
0.493
2--
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDGFB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDXP-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PELI2p.V115F
Missense
SNP
1.000
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX11G-
-
-
-
1Loss-
PEX16-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFN1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGBD5-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGPEP1-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF20L1-
-
-
-
1Loss-
PHF21A-
-
-
-
1Loss-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PI4KA-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGH-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3IP1-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKN1-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLCB2-
-
-
-
1Loss-
PLCH1p.R180L
Missense
SNP
0.417
2--
PLD2-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
1Loss-
PLEK2-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHO1p.A270S
Missense
SNP
0.298
3Gain-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNB2-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMM1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMVK-
-
-
-
3Gain-
PNMA1-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA8p.M122I
Missense
SNP
0.695
2--
PODNL1-
-
-
-
1Loss-
POGK-
-
-
-
3Gain-
POGZp.P732S
Missense
SNP
0.335
3Gain-
POLDIP3-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L12p.P238Q
Missense
SNP
0.464
2--
POMT2-
-
-
-
1Loss-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPIL2-
-
-
-
1Loss-
PPIP5K1p.P1153S
Missense
SNP
1.000
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R16A-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PRAG1-
-
-
-
3Gain-
PRAM1-
-
-
-
1Loss-
PRAME-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRDM11-
-
-
-
1Loss-
PRDX2-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PREX2p.V432L
Missense
SNP
0.433
2--
PRIMA1-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACA-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKD3p.G763V
Missense
SNP
0.381
2--
PRMT2-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROX2-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF39-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRG4-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRSS3-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PSCA-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSG4p.R288L
Missense
SNP
0.665
2--
PSG8p.S5*
Nonsense
SNP
0.402
2--
PSIP1-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMA3-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
1Loss-
PSMB6-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTF1Ap.G110S
Missense
SNP
0.470
2--
PTGDR-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGR2-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTK2-
-
-
-
1Loss-
PTP4A3-
-
-
-
1Loss-
PTPMT1-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN21-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPN6p.V76L
Missense
SNP
0.490
2--
PTPRBp.E236D
Missense
SNP
0.489
2--
PTPRD-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTRFp.E188Q
Missense
SNP
0.459
NDND-
PUF60-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PWP1p.D371Y
Missense
SNP
0.419
2--
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
1Loss-
PYGL-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QSER1-
-
-
-
1Loss-
QSOX2p.E551K
p.G73V
Missense
Missense
SNP
SNP
0.482
0.481
2--
QTRT1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2B-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3Cp.E115K
Missense
SNP
0.404
2--
RAB3D-
-
-
-
1Loss-
RAB3GAP2-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RAC2-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RAI14p.H52Q
Missense
SNP
0.418
2--
RALGAPA1-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
RECQL4-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REM2-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFXANK-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS7-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
1Loss-
RIBC2-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIN3-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMDN3-
-
-
-
1Loss-
RN7SK-
-
-
-
NDNDAL139099.4--RN7SK
RN7SK--RN7SL1
RN7SK--AL139099.4
RN7SL1--RN7SK
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP80-
-
-
-
NDNDRN7SKP80--ZNF277
RN7SL1-
-
-
-
NDNDCD24--RN7SL1
RN7SK--RN7SL1
RN7SL1--RN7SK
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF123p.R496L
Missense
SNP
0.497
2--
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF185-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF212B-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL36-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL8-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS28-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPS6KL1-
-
-
-
1Loss-
RPTNp.Q712*
Nonsense
SNP
0.318
3Gain-
RPTORp.G655W
Missense
SNP
0.518
2--
RPUSD2-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP7A-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH10Bp.K823N
Missense
SNP
0.561
2--
RSPH14-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTF1-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
1Loss-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYR2p.Q457H
p.G2558V
Missense
Missense
SNP
SNP
0.301
0.312
3Gain-
RYR3-
-
-
-
1Loss-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100B-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMM50-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCARB2p.D210Y
Missense
SNP
0.300
2--
SCARF1-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCFD1-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCN1Ap.H698Q
Missense
SNP
0.488
2--
SCN2Ap.G331R
Missense
SNP
0.375
2--
SCNM1-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCRIB-
-
-
-
1Loss-
SCRT1-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE1-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L5p.E169Q
Missense
SNP
0.447
2--
SEC14L6-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SECISBP2L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOM-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA6B-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTAD4-
-
-
-
3Gain-
SETBP1p.R948L
Missense
SNP
1.000
1Loss-
SETD3-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTA3-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D3A-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3PXD2Ap.R491L
Missense
SNP
0.558
2--
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
1Loss-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC4-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISA9p.A191E
Missense
SNP
0.432
2--
SHISAL1-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIGLEC8p.L345M
Missense
SNP
0.493
2--
SIGMAR1-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SLA-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A1-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A6-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC17A6-
-
-
-
1Loss-
SLC19A1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A47-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC28A2-
-
-
-
1Loss-
SLC2A11-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC35C1-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A13-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC45A4-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
1Loss-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC7A4-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC9A7p.T624K
Missense
SNP
0.506
NDND-
SLC9C2-
-
-
-
3Gain-
SLIRP-
-
-
-
1Loss-
SLITRK2p.V177M
p.V282L
Missense
Missense
SNP
SNP
0.462
0.452
NDND-
SLURP1-
-
-
-
1Loss-
SLURP2-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG1p.Q3191L
Missense
SNP
0.458
2--
SMG5-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP29-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC1-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRPD3-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX6-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SORCS1p.Q505K
Missense
SNP
0.490
2--
SORD-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SPAAR-
-
-
-
1Loss-
SPACA1p.D157N
Missense
SNP
0.512
2--
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPATA17-
-
-
-
3Gain-
SPATA22-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATC1-
-
-
-
1Loss-
SPATC1L-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPI1-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTB-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRGAP2B-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSTR1-
-
-
-
1Loss-
SSTR3-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST14p.W474C
Missense
SNP
0.460
2--
ST3GAL1-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STIM1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX10-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUSD4-
-
-
-
3Gain-
SUSD6-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYMPKp.E363Q
Missense
SNP
0.415
2--
SYN1p.R108P
Missense
SNP
0.429
NDND-
SYN3-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT13-
-
-
-
1Loss-
SYT14-
-
-
-
3Gain-
SYT16-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TACC2p.A2600S
Missense
SNP
0.556
2--
TADA1-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1L-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS1R2p.G31V
Missense
SNP
0.495
2--
TATDN3-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBCE-
-
-
-
3Gain-
TBPL2-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCF20-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCP11L2p.E274Q
Missense
SNP
0.492
2--
TDP1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT2p.E302*
Nonsense
SNP
0.490
2--
TEKT3-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TESK1-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFIP11-
-
-
-
1Loss-
TG-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGFB3-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THRAP3p.E543*
Nonsense
SNP
0.429
2--
THSD7Bp.G899E
Missense
SNP
0.439
2--
THTPA-
-
-
-
1Loss-
TIAM1p.D263V
Missense
SNP
0.557
2--
TICAM1-
-
-
-
1Loss-
TIGD5-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TJP1-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLN1p.S1849Y
Missense
SNP
1.000
1Loss-
TLR5-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TMCO1-
-
-
-
3Gain-
TMCO5A-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM184B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM249-
-
-
-
1Loss-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM71-
-
-
-
1Loss-
TMEM79-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPRSS3p.T454S
Missense
SNP
0.367
2--
TMPRSS6-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMX1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNFSF9-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TOB2-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM20L-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
1Loss-
TONSL-
-
-
-
1Loss-
TOP1MT-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPORS-
-
-
-
1Loss-
TOX4-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53BP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53I11-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPM4-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TPST2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRABD-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAF6-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TRIM11-
-
-
-
3Gain-
TRIM15p.I162M
Missense
SNP
0.433
2--
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM49B-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSG101-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN16-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC24-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTR-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TUSC1-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TXN2-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYRO3-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
U2AF2p.X17_splice
Splice_Site
SNP
0.500
2--
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBB-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2L3-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2R2-
-
-
-
1Loss-
UBE3A-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR7-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UCK2-
-
-
-
3Gain-
UEVLD-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC13B-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC80p.G143*
Nonsense
SNP
0.517
2--
UPB1-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UQCR10-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
USE1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USH1C-
-
-
-
1Loss-
USH2A-
-
-
-
3Gain-
USHBP1-
-
-
-
1Loss-
USP17L1-
-
-
-
3Gain-
USP17L3-
-
-
-
3Gain-
USP17L4-
-
-
-
3Gain-
USP17L8-
-
-
-
3Gain-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP6p.E1045K
Missense
SNP
1.000
1Loss-
USP8-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VASH2-
-
-
-
3Gain-
VAV1-
-
-
-
1Loss-
VCANp.T1806S
Missense
SNP
0.421
2--
VCP-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIPAS39-
-
-
-
1Loss-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS16p.W180C
Missense
SNP
0.408
2--
VPS18-
-
-
-
1Loss-
VPS28-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VRK1-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM2Ap.E161Q
Missense
SNP
0.525
2--
VSX2-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WDFY1p.W60C
Missense
SNP
0.462
2--
WDHD1-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WEE1-
-
-
-
1Loss-
WISP1-
-
-
-
1Loss-
WIZ-
-
-
-
1Loss-
WNT3A-
-
-
-
3Gain-
WNT7B-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XIRP2p.D1889H
Missense
SNP
0.587
2--
XPNPEP3-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBTB1-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB25-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB42p.R171G
Missense
SNP
1.000
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3H3-
-
-
-
1Loss-
ZC3H7B-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZFAT-
-
-
-
1Loss-
ZFC3H1p.R487*
Nonsense
SNP
0.508
2--
ZFHX2-
-
-
-
1Loss-
ZFHX4p.G981S
Missense
SNP
0.396
2--
ZFP3-
-
-
-
1Loss-
ZFP30p.P325L
Missense
SNP
0.428
2--
ZFP36L1-
-
-
-
1Loss-
ZFP41-
-
-
-
1Loss-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF106-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF124-
-
-
-
3Gain-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF16-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF250-
-
-
-
1Loss-
ZNF251-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF277-
-
-
-
2-RN7SKP80--ZNF277
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF292p.Q1788E
Missense
SNP
0.537
2--
ZNF317-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF34-
-
-
-
1Loss-
ZNF354Cp.D202Y
Missense
SNP
0.460
2--
ZNF358-
-
-
-
1Loss-
ZNF391p.D337N
Missense
SNP
0.516
2--
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
3Gain-
ZNF506-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF536p.E602*
Nonsense
SNP
0.566
2--
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF623-
-
-
-
1Loss-
ZNF624-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF653-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677p.V184L
Missense
SNP
0.434
2--
ZNF678-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF69-
-
-
-
1Loss-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF696-
-
-
-
1Loss-
ZNF699-
-
-
-
1Loss-
ZNF7-
-
-
-
1Loss-
ZNF70-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF707-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727p.K387N
Missense
SNP
0.480
2--
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF770-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF804Ap.D474H
Missense
SNP
0.537
2--
ZNF823-
-
-
-
1Loss-
ZNF839-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNRF3-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZSCAN21p.E256Q
Missense
SNP
0.534
2--
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM4-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-